ClinVar Miner

Submissions for variant NM_000195.5(HPS1):c.297C>T (p.Thr99=)

gnomAD frequency: 0.04930  dbSNP: rs11539873
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150814 SCV000198349 benign not specified 2013-02-21 criteria provided, single submitter clinical testing Thr99Thr in exon 5 of HPS1: This variant is not expected to have clinical signif icance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 6.0% (512/8600) of Eur opean American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs11539873).
Preventiongenetics, part of Exact Sciences RCV000150814 SCV000302935 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000262483 SCV000359673 benign Hermansky-Pudlak syndrome 1 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae RCV001522012 SCV001731469 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000262483 SCV001754978 benign Hermansky-Pudlak syndrome 1 2021-07-10 criteria provided, single submitter clinical testing
GeneDx RCV001522012 SCV001890332 benign not provided 2019-10-21 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275008 SCV001459684 benign Hermansky-Pudlak syndrome 2020-09-16 no assertion criteria provided clinical testing

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